The pathogenesis of age-related macular degeneration (AMD) has not been fully understood; however, the investigation of the relationships between genetic factors, clinical findings, and response to treatment could lead to the elucidation of pathogenic mechanisms, prediction of treatment effects, and discovery of new treatments. Studies on the whole genome analysis of AMD have reported that age-related maculopathy susceptibility 2 (ARMS2), complement factor H (CFH), complement component 2 (C2) -complement factor B (CFB)-superkiller viralicidic activity 2-like (SKIV2L) and C3 are associated with AMD. To date, intravitreal injections of anti-vascular endothelial growth factor (VEGF) agents have been used as the first-line therapy for exudative AMD. Moreover, since the approval of pegaptanib sodium in 2008, an increasing number of therapeutic options, such as ranibizumab, aflibercept, and brolucizumab, have become available. Regarding the association between exudative AMD and genetic factors, several studies have investigated the association between the response to ranibizumab and genetic factors; however, no studies have investigated the association between aflibercept therapy and genetic factors. Therefore, we used aflibercept in the pro re nata regimen after the introductory treatment and investigated the association between 1-year treatment response and susceptibility genes. The T allele of ARMS2 A69S (rs10490924) and C allele of CFH (rs1329428) were associated with the need for retreatment and the number of additional injections. This study suggests that investigating AMD susceptibility genes in patients may help in the selection of treatment regimens and modification of the medical examination interval according to individual patients, i. e., for the development of so-called precision medicine.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 126: 968-975, 2022.